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Guidance: Newborn blood spot screening: laboratory guide for IMDs

Nhs England

November 6
14:47 2024

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The document covers screening and diagnostic protocols and initial clinical referral guidelines for the 6 inherited metabolic diseases:

  • phenylketonuria (PKU)
  • medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • maple syrup urine disease (MSUD)
  • isovaleric acidaemia (IVA)
  • glutaric aciduria type 1 (GA1)
  • homocystinuria (pyridoxine unresponsive) (HCU)

Updates to this page

Published 14 July 2015
Last updated 6 November 2024 +show all updates
  1. Collated information and provided links to diagnostic information

  2. Updated version of guidance document.

  3. First published.

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